A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2725178



Internal ID10308814
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr3:39218604..39219210hg38UCSC Ensembl
Outerchr3:39260095..39260701hg19UCSC Ensembl
Cytoband3p22.2
Allele length
AssemblyAllele length
hg38607
hg19607
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6807808, essv6722520, essv6759450, essv6933883, essv6711125, essv6840505, essv6773945, essv6955698, essv6707737, essv6947054
SamplesSSM024, SSM075, SSM045, SSM042, SSM041, SSM084, SSM021, SSM061, SSM026, SSM066
Known Genes
MethodSequencing
AnalysisBreakdancer:4 times standard deviation,VariationHunter:4 times standard deviation and at least 3 supportting reads
PlatformIllumina HiSeq 2000
Comments
ReferenceWong_et_al_2012b
Pubmed ID23290073
Accession Number(s)esv2725178
Frequency
Sample Size96
Observed Gain0
Observed Loss10
Observed Complex0
Frequencyn/a


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